Laforin
Encyclopedia
Laforin, encoded by the EPM2A gene
, is a protein
mutated in patients with Lafora disease
. It contains a dual specificity phosphatase
domain (DSP) and a carbohydrate binding module
subtype 20 http://www.cazy.org/fam/acc_CBM.html (CBM20). Its physiological substrate
has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease
is unknown.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
, is a protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
mutated in patients with Lafora disease
Lafora disease
Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF , is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within neurons and the cells of the heart, liver, muscle, and skin.Most patients with this disease...
. It contains a dual specificity phosphatase
Phosphatase
A phosphatase is an enzyme that removes a phosphate group from its substrate by hydrolysing phosphoric acid monoesters into a phosphate ion and a molecule with a free hydroxyl group . This action is directly opposite to that of phosphorylases and kinases, which attach phosphate groups to their...
domain (DSP) and a carbohydrate binding module
Carbohydrate-binding module
In molecular biology, a carbohydrate-binding module is a protein domain found in carbohydrate-active enzymes . The majority of these domains have carbohydrate-binding activity. Some of these domains are found on cellulosomal scaffoldin proteins. CBMs were previously known as cellulose-binding...
subtype 20 http://www.cazy.org/fam/acc_CBM.html (CBM20). Its physiological substrate
Substrate (biochemistry)
In biochemistry, a substrate is a molecule upon which an enzyme acts. Enzymes catalyze chemical reactions involving the substrate. In the case of a single substrate, the substrate binds with the enzyme active site, and an enzyme-substrate complex is formed. The substrate is transformed into one or...
has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease
Lafora disease
Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF , is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within neurons and the cells of the heart, liver, muscle, and skin.Most patients with this disease...
is unknown.